Two missense variants of the epidermal growth factor receptor gene are associated with non small cell lung carcinoma in the Iraqi population

Abstract

Background Lung carcinoma is a foremost cause of cancer-related mortality worldwide. Variable genetic factors are associated with the development of lung malignancy. This study was performed to evaluate the possible association between epidermal growth factor receptor (EGFR) gene polymorphisms and non small cell lung carcinoma (NSCLC) in Iraqi population. Methods DNA samples were extracted from 100 patients and 100 controls. Four PCR fragments were designed to amplify four high-frequency variants within EGFR, namely rs1050171, rs2072454, rs2227984, and rs2227983. The PCR fragments were genotyped by single-strand conformation polymorphism (SSCP) method, and each genotype was exposed to direct sequencing. Results Genotyping experiments confirmed the variability of three targeted variants, and logistic regression analysis showed that two of these variants (rs1050171 and rs2227983) exhibited a significant association with NSCLC. Individuals with rs1050171:GA genotype showed a significant association with the increased risk of NSCLC (P=0.0110; OD 5.2636; Cl95% 1.4630 to 18.9371). Individuals with rs2227983:GG genotype exhibited a highly significant association with NSCLC (P=0.0037; OD 5.2683; Cl95% 1.7141 to 16.1919). Linkage disequilibrium analysis showed that the effects of the investigated variants are independent of each other. Conclusions Our collective data indicated that EGFR-rs1050171G/A and EGFR-rs2227983G/G SNPs exerted significant and independent association with the increased risk of NSCLC. This study suggests employing both rs1050171 and rs2227983 SNPs as informative diagnostic markers for the early detection of NSCLC in the study population.